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mybpc3 myosin binding protein C3 [ Danio rerio (zebrafish) ]

Gene ID: 556489, updated on 2-Nov-2024

Summary

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Official Symbol
mybpc3provided by ZNC
Official Full Name
myosin binding protein C3provided by ZNC
Primary source
ZFIN:ZDB-GENE-070112-2362
See related
Ensembl:ENSDARG00000011615 AllianceGenome:ZFIN:ZDB-GENE-070112-2362
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
im:6900815; zgc:152717; zgc:158442; hm:zehn0716
Summary
Predicted to enable myosin heavy chain binding activity. Acts upstream of or within cardiac chamber morphogenesis; heart contraction; and regulation of heart rate. Predicted to be located in myosin filament. Predicted to be active in M band. Is expressed in anterior macula; heart rudiment; musculature system; pericardial region; and trunk. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1MM; familial hypertrophic cardiomyopathy; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 4. Orthologous to human MYBPC3 (myosin binding protein C3). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs
human mouse all
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Genomic context

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See mybpc3 in Genome Data Viewer
Location:
chromosome: 7
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 7 NC_007118.7 (31838321..31899118)
105 previous assembly GRCz10 (GCF_000002035.5) 7 NC_007118.6 (31567154..31627970)

Chromosome 7 - NC_007118.7Genomic Context describing neighboring genes Neighboring gene nucleosome assembly protein 1-like 4b Neighboring gene cysteinyl-tRNA synthetase 1 Neighboring gene lin-7 homolog C (C. elegans) Neighboring gene uncharacterized LOC103911387 Neighboring gene brain-derived neurotrophic factor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. Zebrafish cardiac muscle thick filaments: isolation technique and three-dimensional structure. González-Solá M, et al. Biophys J, 2014 Apr 15. PMID 24739166, Free PMC Article
  2. Inactivation of Myosin binding protein C homolog in zebrafish as a model for human cardiac hypertrophy and diastolic dysfunction. Chen YH, et al. J Am Heart Assoc, 2013 Sep 18. PMID 24047589, Free PMC Article
  3. Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model. Da'as SI, et al. J Cell Physiol, 2020 Nov. PMID 31943169
  4. Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models. Hodatsu A, et al. Am J Physiol Heart Circ Physiol, 2014 Dec 1. PMID 25281569
  5. Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model. Da'as SI, et al. Int J Mol Sci, 2022 Aug 9. PMID 36012114, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Homology

Clone Names

  • MGC152717, MGC158442

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables myosin heavy chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cardiac atrium formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cardiac ventricle formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of heart rate IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ventricular cardiac muscle tissue morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in M band IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in myosin filament IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
myosin-binding protein C, cardiac-type
Names
myosin binding protein C, cardiac

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001044349.2 → NP_001037814.2  myosin-binding protein C, cardiac-type

    Status: VALIDATED

    Source sequence(s)
    BC107633, CN179233, CO930551, DT081938, EB890884, EB892846, EB896522, EB897596, EB897718
    UniProtKB/TrEMBL
    A0A8M1N978
    Related
    ENSDARP00000143224.1, ENSDART00000174217.2
    Conserved Domains (8) summary
    cd00096
    Location:1181 → 1245
    Ig; Immunoglobulin domain
    cd05748
    Location:973 → 1045
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
    cd05894
    Location:666 → 751
    Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
    smart00408
    Location:478 → 536
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:668 → 751
    IG_like; Immunoglobulin like
    cd00063
    Location:755 → 841
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:1164 → 1253
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:400 → 461
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007118.7 Reference GRCz11 Primary Assembly

    Range
    31838321..31899118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_068222308.1 → XP_068078409.1  myosin-binding protein C, cardiac-type isoform X1

    Related
    ENSDARP00000109343.2, ENSDART00000122506.3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001080680.1: Suppressed sequence

    Description
    NM_001080680.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version

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